AutismKB 2.0

Annotation Detail for EIF2C1


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Basic Information Top
Gene Symbol:EIF2C1 ( AGO1,DKFZp686M13167,EIF2C,GERP95,Q99 )
Gene Full Name: eukaryotic translation initiation factor 2C, 1
Band: 1p34.3
Quick LinksEntrez ID:26523; OMIM: 606228; Uniprot ID:AGO1_HUMAN; ENSEMBL ID: ENSG00000092847; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body5 / 7076170
blastocyst3 / 6231948
fetus28 / 56401249
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult80 / 193912141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor21 / 26384579
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal98 / 336030729
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow1 / 4880120
brain27 / 110098924
cervix2 / 4817141
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye6 / 21105428
heart4 / 8962644
intestine10 / 23447242
kidney10 / 21177747
larynx0 / 241450 
liver5 / 20774324
lung16 / 33697447
lymph1 / 4427022
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate8 / 18934542
salivary gland0 / 201550 
skin7 / 21057433
spleen1 / 5395218
stomach1 / 9661910
testis19 / 33044257
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218287_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.9
Adipocyte12.2
AdrenalCortex7.45
Adrenalgland6.05
Amygdala5.6
Appendix7.6
AtrioventricularNode6.2
BDCA4+_DentriticCells10.2
Bonemarrow6.7
BronchialEpithelialCells4.85
CD105+_Endothelial7
CD14+_Monocytes13.6
CD19+_BCells(neg._sel.)11.9
CD33+_Myeloid26.2
CD34+12.1
CD4+_Tcells7.95
CD56+_NKCells18.35
CD71+_EarlyErythroid6.1
CD8+_Tcells10.8
CardiacMyocytes8.6
Caudatenucleus6.1
Cerebellum9.55
CerebellumPeduncles13.05
CiliaryGanglion4.9
CingulateCortex7.9
Colorectaladenocarcinoma6.7
DorsalRootGanglion7.75
FetalThyroid8.05
Fetalbrain6.8
Fetalliver6
Fetallung5.95
GlobusPallidus5.1
Heart8.95
Hypothalamus7.95
Kidney4.3
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-609.3
Leukemialymphoblastic(MOLT-4)5.8
Liver6.6
Lung7.55
Lymphnode5.85
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)10.4
MedullaOblongata9
OccipitalLobe6.45
OlfactoryBulb5.7
Ovary4.8
Pancreas5.45
PancreaticIslet8.85
ParietalLobe6.6
Pituitary8.45
Placenta6.45
Pons9.8
PrefrontalCortex11.25
Prostate13.5
Salivarygland5.7
SkeletalMuscle8.1
Skin5.45
SmoothMuscle8.15
Spinalcord7.35
SubthalamicNucleus6.25
SuperiorCervicalGanglion10.75
TemporalLobe6.55
Testis6.05
TestisGermCell5.9
TestisIntersitial5.9
TestisLeydigCell6.8
TestisSeminiferousTubule6.75
Thalamus7.05
Thymus6.15
Thyroid9.05
Tongue6.7
Tonsil6.65
Trachea6.3
TrigeminalGanglion8.05
Uterus8.7
UterusCorpus6.75
WholeBlood20.85
Wholebrain6.2
colon7.85
pineal_day9.18
pineal_night8.9
retina8.85
small_intestine7.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P96749
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala6.59 ± 0.55
Basal Forebrain6.43 ± 0.26
Basal Part of Pons5.97 ± 0.35
Cerebellar Cortex6.03 ± 0.29
Cerebellar Nuclei6.23 ± 0.49
Claustrum6.35 ± 0.46
Epithalamus5.93 ± 0.52
Frontal Lobe6.04 ± 0.4
Globus Pallidus6.91 ± 0.32
Hypothalamus5.99 ± 0.26
Insula6.02 ± 0.41
Limbic Lobe6.33 ± 0.44
Mesencephalon6.2 ± 0.45
Myelencephalon6.21 ± 0.4
Occipital Lobe6.49 ± 0.37
Parietal Lobe6.26 ± 0.39
Pontine Tegmentum6.24 ± 0.46
Striatum6.41 ± 0.37
Subthalamus6.21 ± 0.4
Temporal Lobe6.11 ± 0.37
Thalamus6 ± 0.32
White Matter6.91 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eif2c1CBCerebellum27.33
31.61
Eif2c1CTXCerebral cortex70.55
53.99
Eif2c1HIPHippocampal region82.24
100
Eif2c1HPFHippocampal formation78.15
99.38
Eif2c1HYHypothalamus37.61
32.96
Eif2c1LSXLateral septal complex60.58
47.82
Eif2c1MBMidbrain44.07
40.86
Eif2c1MYMedulla37.18
41.23
Eif2c1OLFOlfactory bulb57.69
50.32
Eif2c1PPons31.63
33.79
Eif2c1PALPallidum28.17
26.11
Eif2c1RHPRetrohippocampal region71.73
61.16
Eif2c1sAMYStriatum-like amygdalar nuclei18.07
13.1
Eif2c1STRStriatum36.27
27.13
Eif2c1STRdStriatum dorsal region33.37
24.92
Eif2c1STRvStriatum ventral region49.14
35.55
Eif2c1THThalamus25.46
23.51
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AGO1_HUMAN_1 25 1 25 MEAGPSGAAAGAYLPPLQQVFQAPR PRIDE
PAp00025806 16 334 349 HTYLPLEVCNIVAGQR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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